A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5484051



Internal ID261474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:92058223..92058296hg38UCSC Ensembl
chr9:94820505..94820578hg19UCSC Ensembl
Cytoband9q22.31
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17027394
Samples
Known GenesSPTLC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5484051
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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